KEGG   DISEASE: Bethlem myopathy
Entry
H01340                      Disease                                
Name
Bethlem myopathy
  Subgroup
Bethlem myopathy 2 [DS:H02247]
  Supergrp
Collagen VI myopathy [DS:H01341]
Congenital muscular dystrophies (CMD/MDC) [DS:H00590]
Description
Bethlem myopathy is one of the collagen VI myopathies, caused by mutation of COL6A. Bethlem myopathy is usually inherited in an autosomal dominant manner, but a rare autosomal recessive inheritance has recently been reported. This disease is characterized by a combination of proximal muscle weakness and contractures of finger, elbow, and ankle joints.
Category
Nervous system disease; Musculoskeletal disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Diseases of neuromuscular junction or muscle
   Primary disorders of muscles
    8C70  Muscular dystrophy
     H01340  Bethlem myopathy
Pathway-based classification of diseases [BR:br08402]
 Cellular process
  nt06548  Integrin signaling
   H01340  Bethlem myopathy
Pathway
hsa04151  PI3K-Akt signaling pathway
hsa04518  Integrin signaling
hsa04510  Focal adhesion
hsa04512  ECM-receptor interaction
Network
nt06548 Integrin signaling
Gene
(BTHLM1A) COL6A1 [HSA:1291] [KO:K06238]
(BTHLM1B) COL6A2 [HSA:1292] [KO:K06238]
(BTHLM1C) COL6A3 [HSA:1293] [KO:K06238]
Other DBs
ICD-11: 8C70.6
MeSH: C535436
OMIM: 158810 620725 620726
Reference
PMID:20301676
  Authors
Lampe AK, Flanigan KM, Bushby KM, Hicks D
  Title
Collagen Type VI-Related Disorders
  Journal
GeneReviews (1993)
Reference
PMID:19949035
  Authors
Gualandi F, Urciuolo A, Martoni E, Sabatelli P, Squarzoni S, Bovolenta M, Messina S, Mercuri E, Franchella A, Ferlini A, Bonaldo P, Merlini L
  Title
Autosomal recessive Bethlem myopathy.
  Journal
Neurology 73:1883-91 (2009)
DOI:10.1212/WNL.0b013e3181c3fd2a
Reference
PMID:8782832 (BTHLM1A BTHLM1B)
  Authors
Jobsis GJ, Keizers H, Vreijling JP, de Visser M, Speer MC, Wolterman RA, Baas F, Bolhuis PA
  Title
Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures.
  Journal
Nat Genet 14:113-5 (1996)
DOI:10.1038/ng0996-113
Reference
PMID:9536084 (BTHLM1C)
  Authors
Pan TC, Zhang RZ, Pericak-Vance MA, Tandan R, Fries T, Stajich JM, Viles K, Vance JM, Chu ML, Speer MC
  Title
Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy.
  Journal
Hum Mol Genet 7:807-12 (1998)
DOI:10.1093/hmg/7.5.807
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